Is DMD p.Ala648fs (c.1941dup) pathogenic?

DMD p.Ala648fs (c.1941dup) is classified Pathogenic in DMD (ClinVar, Single submitter, 1 submitter; last evaluated 2022-05-04). No gnomAD frequency available for this variant; Associated with Becker muscular dystrophy.

What condition is associated with DMD p.Ala648fs (c.1941dup)?

DMD p.Ala648fs (c.1941dup) is associated with Becker muscular dystrophy (ClinVar).

How common is DMD p.Ala648fs (c.1941dup) in the general population?

DMD p.Ala648fs (c.1941dup) is no gnomAD frequency available for this variant (gnomAD).

How is Becker muscular dystrophy inherited?

Typically X-linked recessive (Orphanet). A genetic counselor can assess individual risk for a family.

DMD p.Ala648fs

c.1941dup · rs2149094788 · VCV1685742

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Becker muscular dystrophy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 16 of 79
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.8	GERP 1.6, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: DMD
Protein: p.Ala648fs
Coding: c.1941dup
MANE Select: NM_004006
dbSNP: rs2149094788
Type: Duplication
Location: chrX:32565752 (GRCh38)

Full DMD gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Becker muscular dystrophy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Becker muscular dystrophy (Orphanet):

Inheritance: X-linked recessive
Onset: Adolescent, Adult, Childhood, Elderly
Prevalence: 1-9 / 100 000 (Europe)

Similar variants

DMD c.3603+2dup Pathogenic ★★ same condition
DMD p.Leu1900fs Pathogenic ★★ same condition
DMD p.Leu3485Profs Pathogenic ★★ same condition
DMD p.Pro3409fs Pathogenic ★★ same condition
DMD c.31+2dup Uncertain significance ★★ same condition
DMD c.*57_*60dup Uncertain significance ★★ same condition
DMD p.Ala648Pro Uncertain significance ★★ same residue
DMD c.94-9dup Benign/Likely benign ★★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/dmd-p-ala648fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown